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rs121908934

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908934(C;C)
Make rs121908934(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position30889673
GeneCOCH, RPS4XP13
is asnp
is mentioned by
dbSNPrs121908934
ebirs121908934
HLIrs121908934
Exacrs121908934
Varsomers121908934
Maprs121908934
PheGenIrs121908934
hapmaprs121908934
1000 genomesrs121908934
hgdprs121908934
ensemblrs121908934
gopubmedrs121908934
geneviewrs121908934
scholarrs121908934
googlers121908934
pharmgkbrs121908934
gwascentralrs121908934
openSNPrs121908934
23andMers121908934
23andMe allrs121908934
SNP Nexus

SNPshotrs121908934
SNPdbers121908934
MSV3drs121908934
GWAS Ctlgrs121908934
Max Magnitude0
OMIM603196
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121908934(C;C)
Alt rs121908934(C;C)
Reference rs121908934(T;T)
Significance Pathogenic
Disease Deafness
Variation info
Gene COCH LOC100506071
CLNDBN Deafness, autosomal dominant 9
Reversed 0
HGVS NC_000014.8:g.31358879T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006995.2,